German syndrome in sibs

Am J Med Genet. 1987 Feb;26(2):385-90. doi: 10.1002/ajmg.1320260217.

Abstract

We present a male-female sib pair born to Ashkenazi Jewish parents with "arthrogryposis," hypotonia-hypokinesia sequence and lymphedema. Of all the "arthrogryposis" hypotonia syndromes, the condition in these sibs appears to be most like that of the patients of German et al [1975] and the patient of Salmon [1978]. They appear to be the first sib pair with German syndrome, which suggests autosomal recessive inheritance. Three of the four known families with affected children have been Ashkenazi Jews.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / ethnology
  • Abnormalities, Multiple / genetics*
  • Arthrogryposis / ethnology
  • Arthrogryposis / genetics*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Jews
  • Male
  • Muscle Hypotonia / ethnology
  • Muscle Hypotonia / genetics*
  • Syndrome